Canonical Allele Identifier: CA393729108
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211810C>A , CM000677.2:g.89211810C>A GRCh38
NC_000015.9:g.89755041C>A , CM000677.1:g.89755041C>A GRCh37
NC_000015.8:g.87556045C>A NCBI36
NG_008116.1:g.14882G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.617G>T MANE Select ENSP00000268125.5:p.Gly206Val
ENST00000268125.9:c.617G>T ENSP00000268125.5:p.Gly206Val
ENST00000563254.1:c.34G>T
ENST00000567787.1:c.*195G>T ENSP00000457251.1:n.*195G>T
NM_000326.4:c.617G>T NP_000317.1:p.Gly206Val
XM_011521870.1:c.617G>T XP_011520172.1:p.Gly206Val
XM_011521871.1:c.542G>T XP_011520173.1:p.Gly181Val
XM_011521872.1:c.542G>T XP_011520174.1:p.Gly181Val
XM_011521870.2:c.617G>T XP_011520172.1:p.Gly206Val
XM_017022460.1:c.644G>T XP_016877949.1:p.Gly215Val
NM_000326.5:c.617G>T MANE Select NP_000317.1:p.Gly206Val